Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, LARGE

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, LARGE

Definition : Molecular assay reagents intended to identify mutations in the like-glycosyltransferase (LARGE) gene, located at chromosome 22q12.3-q13.1, which encodes for a protein that is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan. mutations at this locus have been identified in patients with congenital muscular dystrophy type 1D.

Entry Terms : "Muscular Dystrophy, Type 1D Congenital Muscular Dystrophy Type 1D (MDC1D) Gene Mutation Reagents" , "LARGE Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, LARGE"

UMDC code : 24592

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